Cerebellar hemorrhage（CBH）in preterm infants is a significant risk factor affecting the neurodevelopmental prognosis of preterm infants，with an increasing incidence over time.Early intervention and treatment by analyzing the risk factors of CBH can improve the survival rate and quality of life for preterm infants.However，there is currently limited research on the risk factors associated with CBH in preterm infants.Cranial ultrasound is the preferred neuroimaging method for diagnosing CBH.With advancements in ultrasound technology，the diagnostic rate of CBH has improved.This article provides a comprehensive review of the risk factors of CBH in preterm infants and the progress on cranial ultrasound diagnosis research，aiming to strengthen the diagnosis，treatment，and follow-up care of cerebellar hemorrhage in preterm infants.

To improve the therapeutic effect of mild hypothermia, avoid the adverse impact of mild hypothermia on cerebral blood flow, and improve the prognosis of hypoxic-ischemic encephalopathy, it is necessary to further explore the mechanism of cerebral hemodynamic disorder in hypoxic-ischemic encephalopathy under mild hypothermia treatment, the influence of systemic hemodynamic changes on cerebral blood flow, and the use of near-infrared spectroscopy to monitor cerebral blood flow and adjust the dosage of vasoactive drugs for avoiding large fluctuation of cerebral blood flow during mild hypothermia treatment and rewarming.

Objective To explore the clinical features, treatment and follow-up of Cockayne syndrome with renal involvement. Method The clinical data of one child with Cockayne syndrome confirmed by gene detection with renal injury were reviewed, and the clinical features of renal involvement in Cockayne syndrome were summarized. Results A male child aged 3 years and 8 months had clinical manifestations of mental retardation, growth retardation, special face and photosensitive dermatitis, and renal involvement was manifested by nephrotic syndrome. Cranial CT showed symmetrically calcification in bilateral basal ganglia. The targeted next generation sequencing results showed homozygous mutations of c.394_398del and p.Leu132Asnfs in ERCC8 gene (NM_000082) of the child, and the same heterozygous mutation was found in both his parents (non-consanguineous marriage). After the diagnosis of nephrotic syndrome, full dose prednisone was given for experimental treatment. The urine protein decreased but did not disappear, which was considered hormone resistance. After 4 months of combined treatment with cyclosporin, the urine protein turned negative. During 20 months of follow-up, urine protein remained negative and renal function remained stable. The renal involvement in Cockayne syndrome was seldomly reported, and its clinical manifestations are heterogeneous. Condusion Renal involvement in Cockayne syndrome may be manifested with nephrotic syndrome which should be noticed.

Objective To study the clinical characteristics of the newborns with gastroesophageal reflux (GER),and to compare the complications and outcomes of different degrees of reflux retrospectively. Methods Neo-nates diagnosed with GER by using upper gastrointestinal series admitted to neonatal ward of Peking University First Hospital from August 2008 to September 2017 were enrolled for the study. Data of demographic characteristics,radio-graphic imaging findings,treatment methods and efficacy of therapy of patients were collected. Infants enrolled in this study were followed up for 1 year after being discharged from hospital. The lasting time of reflux symptoms with different degrees of reflux were compared. Results A total of 47 cases of GER were enrolled,of whom 23 cases were male,and 24 cases were female. There were 42 term infants and 5 preterm infants. Their gestational age ranged from 34 to 41 weeks[(38. 9 ± 1. 6)weeks],and birth weight was from 1990 g to 4430 g[(3157. 3 ± 574. 0)g]. The median onset age was 2 days,ranged from 1 to 21 days. The clinical manifestations were recurrent vomiting (40 / 47 cases,85. 1％) and paroxysmal cyanosis (7 / 47 cases,14. 9％). Complications presented as poor weight gain (42 / 47 cases,89. 4％), aspiration pneumonia (24 / 47 cases,51. 1％)and apnea (1 / 47 cases,2. 1％). The findings of upper gastrointestinal imaging assigned the patients into 2 groups,13 cases of mild reflux group and 34 cases of severe reflux group. After po-sitional therapy together with domperidone,44 patients showed improvement of symptoms. After their discharge,the lasting time of reflux symptoms in the mild reflux group was significantly shorter than in the severe group [4 weeks(2 -8 weeks)vs. 8 weeks (2 - 40 weeks)],and the difference was significant(Z = - 2. 336,P < 0. 05). Conclusions Neonates with GER mainly manifest recurrent vomiting,and most of them have a favorable prognosis. The reflux symp-toms last for less time in the mild reflux infants than in the severe patients.

Objective To study the characteristics of gastroesophageal reflux (GER) in term neonates and the association between the reflux behaviors and gastroesophageal reflux events by multichannel intraluminal impedance-pH monitoring retrospectively.Method Full term neonates suspected to have gastroesophageal reflux,admitted to neonatal ward of our Hospital from November 2016 to December 2017 were enrolled for the study.All underwent 24-hour esophageal multichannel intraluminal impedance-pH (24 h MII-pH) monitoring.They were assigned into physiologic GER group and pathologic GER group.Data of demographic characteristics,clinical symptoms,24 h MII-pH results and indecies for evaluating the association between symptoms and reflux events were collected and analyzed.Result A total of 31 cases were enrolled.The median age of starting 24 MII-pH monitoring was 7 days (range from 2 to 28 days).15 cases were diagnosed with pathologic GER (48.4％),and 16 cases were diagnosed with physiologic GER.The symptoms and signs were persistent vomiting,incessant crying,desaturation (oxygen desaturation) and unexplained transient events (including cyanosis or suspected seizure),case number was 12,9,6,2,and 1 respectively.In the pathologic group,the median of total acid reflux 52 (7 to 80),total weakly acidic reflux 58 (19 to 114);In the physiologic group was 36 (3 to 55),35 (6 to 55) respectively.The neonates in pathologic group had more acidic reflux (both before and after feeding),total weak acid reflux and liquid reflux than physiological GER group,which showed statistical significance (P ＜ 0.05).While there was no significant difference in acid reflux time of total,before feeding and after feeding (P ＞0.05).It was proved that the percentage of positive symptom indices of vomiting,postprandial transient events,incessant crying after feeding,and desaturation associated with GER were 100％,100％,66.7％and 33.3％ retrospectively,which indicate that postprandial transient events were associate with GER,and incessant crying,desaturation were partially related to GER.And no association was found between bradycardia and reflux events.Conclusion Pathological GER of term neonates mainly manifest as reflux of weakly acidic and liquid.24 h MII-pH monitoring could detect weakly acidic reflux and weakly alkaline reflux,so it would be the recommended diagnostic tool for neonatal gastroesophageal reflux.Despite vomiting,special attention should be paid to symptoms associated with GER,such as incessant crying,and unexplained transient events et al.

Objective To study the neurological prognosis of neonates with ventriculomegaly and its influencing factors.Method A retrospective study was conducted among neonates with ventriculomegaly in Peking University First Hospital from January 2013 to December 2015.A series of cranial ultrasonography were performed after birth and the Gesell development scale was conpleted after six months.x2 test and two-independent-sample t test were used for statistical analysis.Result Among 103 cases of ventriculomegaly,95 cases (92.2％) had mildly enlarged lateral ventricles and 8 cases (7.8％) significantly enlarged.83 cases received serial cranial ultrasound examinations after birth.The lateral ventricles of 9 patients (10.8％) bacame wider and 74 (89.2％) not.The Gesell development scales were completed in 65 cases 6 months after birth.Among them,8 patients with widening lateral ventricles got poor prognosis (100％).Among 57 patients without progressively widening lateral ventricles,6 (10.5％) had poor prognosis.The difference was statistically significant (P ＜ 0.001).No correlation was found between the severity of the lateral ventricle widening and the neurological outcome (P =1.000).There were 2 cases with other abnormalities,and 1 case got poor prognosis on follow-up.Conclusion Most neonatal ventriculomegaly patients have mild and isolated lateral ventricle enlargement.Most of them remain stable or gradually return to normal.The patients with progressively widening lateral ventricles are likely to have adverse neurological prognosis.

Objective To study the clinical features,diagnosis and treatment of neonatal very early onset inflammatory bowel disease(VEO-IBD) to improve the diagnosis and treatment of the disease.Method From Jan 2013 to Dec 2015,five infants with VEO-IBD admitted to Peking University First Hospital were reviewed and analyzed.Their clinical data included general condition,clinical symptoms,laboratory tests,autoimmune antibodies (ANCA,dsDNA,ANA and ENA),colonoscopy,pathological results and therapeutic response.Interleukin-10 receptor A (IL-10RA) gene was examined in all patients.All the patients were followed up for more than 1 year.Result Three of the five patients had a family history.Persistent diarrhea was the most common presenting symptom.One of them received surgery because of intestinal necrosis and developed typical symptoms of IBD half a year later.Bloody stool or positive fecal occult blood test were found in all infants.Fever,anemia,oral ulcer,perianal lesions and malnutrition were common concomitant symptoms.Most of the patients had elevated WBC,CRP and ESR,and 4 of them had positive autoimmune antibodies.Colonoscopy showed multiple ulcers affecting the colon.Intestinal biopsies revealed acute and chronic inflammation.4 of patients were found to have cryptitis and crypt abscesses.Gene sequencing revealed IL-10RAgene mutation in all five patients,including 1 case with homozygous mutation and 4 heterozygous mutations.4 patients received steroid and mesalazine therapy and only 1 patient's symptoms were controlled.However,the colonoscopy result was still abnormal in this patient.4 patients had poor response to further infliximab and (or) thalidomide therapy.1 of them received surgery because of intestinal obstruction at 2-year-old.Conclusion Neonatal VEO-IBD was associated with IL-10RA gene mutation.The patients had severe symptoms and poor response to conventional medications.The effects of biological agents and thalidomide were still not sure.

ObjectiveTo analyze the characteristics of neonatal hyperammonemia and citrullinemia caused by argininosuccinate lyase (ASL) gene mutations, and to have a better understanding of this disease. MethodsA neonatal patient with the onset of hyperammonemia and citrullinemia admitted to the Department of Pediatrics of Peking University First Hospital on April 2, 2014, was retrospectively studied. Peripheral blood leukocyte DNA of the patient and his parents was collected to detectASS1,ASL andSLC25A13 gene mutations. The literature related to neonatal hyperammonemia, citrullinemia and argininosuccinic aciduria was reviewed. ResultsThe baby in this case appeared lethargic, had weaker crying and food refusal since three days after birth, and analysis of blood amino acid found a marked increase in blood ammonia (1 332μmol/L) and a significant rise in citrulline (759.12μmol/L). Sanger sequencing detection revealed compound heterozygous mutations in theASL gene (c.434 A>G, c.857A>C) and this c.857A>C mutation was the first reported case in China. This case of hyperammonemia and citrullinemia was confirmed as argininosuccinic aciduria caused by ASL gene mutations. A protein-limited diet and the treatment of arginine and L-carnitine were given. His blood ammonia decreased to normal level and there was a significant improvement in physical and intellectual progress at five months old. Unfortunately, he had an intestinal infection when he was over five months old and the blood ammonia level tested in the local hospital was 480μmol/L. Gradually there was a disturbance of consciousness, then coma, and he finally died after active rescue in the local hospital.ConclusionsHyperammonemia and citrullinemia in neonates are likely to be argininosuccinic aciduria and a gene mutation test may be helpful for diagnosis.

Objective To analyze and summarize clinical manifestations of inflammatory bowel disease (IBD) in neonates.Methods From 2007 to 2013,three neonates were diagnosed with IBD in Peking University First Hospital.Data on these three cases with neonatal IBD were analyzed.The coding region of the interleukin 10 receptor A (IL10RA) gene was detected using direct Sanger sequencing in one of the patients.The literature was reviewed.Results The three newborns were 4-12 days old,all had symptoms of diarrhca,mucosanguineous feces and oral ulcers,accompanied by hypoalbuminemia and a family history.Two of these infants had perianal lesions,and one had liver damage and scizures.All three patients had elevated white blood cells and were anti-proteinase 3 positive.Two had elevated C-reactive protein and erythrocyte sedimentation rate,and one had positive antinuclcar antibodies and double stranded DNA antibodies.Colonoscopy showed multiple ulcers affecting the ileocecum and colon.The infants received treatment including antibiotics,switching formula feeding and 5-aminosalicylic acid.After treatment,one infant was cured,one died although glucocorticoids and azathioprine were used,and the other with a IL10RA gene mutation recovered,this infant had a compound heterozygous mutation with c.301C ＞ T (p.Arg101Trp),c.421G ＞ A (p.Gly141Arg) and whose parents were carriers.The literature review showed that fever and abnorrnal defecation were the main clinical features,and examination of serum antibodies showed a lower positive rate.The patients had a poor response to medications and most required surgery.IL10RA gene mutations were detected in some patients.Conclusions Neonates with diarrhea and a family history may have IBD and should undergo colonoscopy as early as possible.

Objective To study the characteristics and its risk fastors of brain development of the preterm infant early after birth in amplitude-integrated electroencephalography(aEEG). Methods The 153 preterm infants who had seen a doctor in Peking University First Hospital from April 2009 to August 2013 accepted the aEEG check at term of corrected gestational age ( ≥ 38 weeks but < 42 weeks of corrected gestational age). The risk factors of brain development, such as gestational age ( < 30, 30 ≤ - ≤ 33+6 and 34≤-≤36+6 weeks), clinical informations [relatively stable group including 104 cases without any serious complications or brain injury, the group only suffering from a serious brain injury (19 cases), and the group only suffering from severe systemic disease (30 cases)] and nutrition (good or malnutrition), were analyzed. Also the relationship between the aEEG and the cranial ultrasound detected at the same time and the Gesell Developmental Scale at six months of corrected gestational age. Theχ2 test, two independent samples t-test and Logistic regression analysis were used for statistical analysis. Results The aEEG of 52%(79/153) cases reached the level of normal full-term newborn at term of corrected gestational age, only 48% (74/153) were abnormal. The abnormal rate of aEEG results in relatively stable preterm infants decreased from 3/6 (<30 weeks) to 35%(13/37) at 34 ≤ - ≤ 36+6 weeks, but the difference was not statistically significant (χ2=1.998, P=0.353). The abnormal rate of aEEG results in the group suffering from a serious brain injury was higher than the relatively stable preterm infants [14/19 vs 44%(46/104) ,χ2=5.578, P=0.024]. In relatively stable preterm infants, there was no difference of the abnormal rate of the aEEG results between intrauterine malnutrition group and good nutrition group [46%(19/41) vs 43%(27/63),χ2=0.122, P=0.727]. Neither was between extrauterine malnutrition group and good nutrition group [52%(13/25) vs 42%(33/79),χ2=0.805, P=0.369]. Serious brain injury was independent risk factor of abnormal aEEG (OR=3.453, 95%CI: 1.177-10.132, P=0.024). The coincidence rate of aEEG and the cranial ultrasound examination or the scores of Gesell Developmental Scale was 57%(56/98) and 50%(10/20), respectively. Conclusions The brain catch-up development may appears early after birth in preterm infants, which are impaired by lower gestational age and the severe brain injury. It is more effective of aEEG for evaluating the brain development of preterm infants when combines with other methods.