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 explore the clinical and genetic characteristics of a Chinese pedigree affected with a syndromic form of hereditary gingival fibromatosis (HGF). Methods: Clinical data of the pedigree members were collected. The excised gingiva were collected, and the pathological features were observed by histological sectioning. Genomic DNA was extracted from peripheral blood samples, and whole-exome sequencing was used to identify gene mutations. Results : The proband, her mother, her maternal grandfather and her maternal grandfather's sister all suffered from gum hyperplasia; female patients had congenital hirsutism and macromastia, while male patients also had congenital hirsutism, which suggests that this pedigree may have a congenital syndrome. The pathological characteristics of the gingival tissue were chronic inflammation with fibromatous hyperplasia, connective tissue enlargement, and filling with thick collagen fiber bundles. In addition, whole-exome sequencing results showed that no mutations related to known pathogenic genes were found, suggesting that new pathogenic gene mutations may be the cause. Conclusion According to the literature and our gene sequencing results, it is suggested that this may be the first pedigree with a new syndrome HGF (gingival fibromatosis + congenital hirsutism + macromastia) caused by an unknown pathogenic gene mutation.