Objective:To investigate the changes of plasma ghrelin levels and insulin(INS) sensitivity of full-term infants small for gestational age (SGA) and the effects of breast feeding on it.Methods:Full-term SGA hospitalised in the Department of Neonatology, Wuhan Children′s Hospital from October 2014 to April 2019 were re-cruited as the SGA group (120 cases), with full-term infants appropriate for gestational age (AGA) born in the same period as the AGA group (96 cases) in this study with recorded birth weight and length.The levels of fasting blood glucose (FG), triglyceride (TG), low density lipoprotein (LDL), high density lipoprotein (HDL), INS and ghrelin were measured 7 days after birth.Homeostasis model assessment-insulin resistance (HOMA-IR) was calculated.The SGA group was subdivided into breast feeding group and formula feeding group.The above indexes were tracked and mea-sured in the 3 rd and 6 th month, respectively, and their growth parameters were recorded. Results:There were no diffe-rences in serum FG, TG, LDL and HDL levels between the SGA and the AGA group (all P>0.05). Compared with the AGA group, the serum INS[(4.21±0.83) mIU/L vs.(3.54±1.10) mIU/L], ghrelin levels[(0.80±0.23) μg/L vs.(0.69±0.19) μg/L] and HOMA-IR (0.85±0.25 vs.0.72±0.25) increased in the SGA group, the differences were statistically significant (all P<0.05). Serum INS, HOMA-IR and ghrelin levels changed with the duration of breast feeding, the differences were statistically significant( F=12.394, 9.810, 5.531, all P<0.05). Conclusions:The serum ghrelin levels of SGA infants increased and INS sensitivity decreased.Breastfeeding can decrease levels of serum INS, HOMA-IR and ghrelin, and can improve INS sensitivity of SGA infants.

This study investigated the effects of hyperoxia on dynamic changes of thioredoxin-1 (Trx1) and thioredoxin reductase-1 (TrxR1) in alveolar type II epithelial cells (AECII) of premature rats. Pregnant Sprague-Dawley rats were sacrificed on day 19 of gestation. AECII were isolated and purified from the lungs of premature rats. When cultured to 80% confluence, in vitro cells were randomly divided into air group and hyperoxia group. Cells in the hyperoxia group were continuously exposed to 95% O(2)/5% CO(2) and those in the air group to 95% air/5% CO(2). After 12, 24 and 48 h, cells in the two groups were harvested to detect their reactive oxygen species (ROS), apoptosis, TrxR1 activity and the expressions of Trx1 and TrxR1 by corresponding protocols, respectively. The results showed that AEC II exposed to hyperoxia generated excessive ROS and the apoptosis percentage in the hyperoxia group was increased significantly at each time points as compared with that in the air group (P<0.001). Moreover, TrxR1 activity was found to be markedly depressed in the hyperoxia group in comparison to that in the air group (P<0.001). RT-PCR showed the expressions of both Trx1 and TrxR1 mRNA were significantly increased in AECII exposed to hyperoxia for 12 and 24 h (P<0.01), respectively. At 48 h, the level of Trx1 mRNA as well as that of TrxR1 mRNA in the hyperoxia group was reduced and showed no significant difference from that in the air group (P>0.05). Western blotting showed the changes of Trx1 protein expressions in the hyperoxia group paralleled those of Trx1 mRNA expressions revealed by RT-PCR. It was concluded that hyperoxia can up-regulate the protective Trx1/TrxR1 expressed by AECII in a certain period, however, also cause dysfunction of the cytoplasmic thioredoxin system by decreasing TrxR1 activity, which may contribute to the progression of oxidative stress and cell apoptosis and finally result in lung injury.

This study investigated the effects of hyperoxia on dynamic changes of thioredoxin-1 (Trx1)and thioredoxin reductase-1 (TrxR1) in alveolar type Ⅱ epithelial cells (AECⅡ) of premature rats.Pregnant Sprague-Dawley rats were sacrificed on day 19 of gestation.AEC Ⅱ were isolated and purified from the lungs of premature rats.When cultured to 80％ confluence,in vitro cells were randomly divided into air group and hyperoxia group.Cells in the hyperoxia group were continuously exposed to 95％ O2/5％ CO2 and those in the air group to 95％ air/5％ CO2.After 12,24 and 48 h,cells in the two groups were harvested to detect their reactive oxygen species (ROS),apoptosis,TrxR1 activity and the expressions of Trx1 and TrxR1 by corresponding protocols,respectively.The results showed that AEC Ⅱ exposed to hyperoxia generated excessive ROS and the apoptosis percentage in the hyperoxia group was increased significantly at each time points as compared with that in the air group (P＜0.001).Moreover,TrxR1 activity was found to be markedly depressed in the hyperoxia group in comparison to that in the air group (P＜0.001).RT-PCR showed the expressions of both Trx1 and TrxR1 mRNA were significantly increased in AEC Ⅱ exposed to hyperoxia for 12 and 24 h (P＜0.01),respectively.At 48 h,the level of Trx1 mRNA as well as that of TrxR1 mRNA in the hyperoxia group was reduced and showed no significant difference from that in the air group (P＞0.05).Western blotting showed the changes of Trx 1 protein expressions in the hyperoxia group paralleled those of Trx1 mRNA expressions revealed by RT-PCR.It was concluded that hyperoxia can up-regulate the protective Trx1/TrxR1 expressed by AEC Ⅱ in a certain period,however,also cause dysfunction of the cytoplasmic thioredoxin system by decreasing TrxR1 activity,which may contribute to the progression of oxidative stress and cell apoptosis and finally result in lung injury.

Objective To investigate the clinical manifestations and motor neuron and pancreas homeobox 1 (MNX1) gene mutation features of Currarino syndrome.Methods Microdeletion and microduplication of the patients were detected by chromosomal microarray analysis (CMA),and literature review was performed for the clinical syndrome of Currarino syndrome with similar genotype.Results Two patients with Currarino syndrome were recruited in this study.Patient 1,a 7-day girl,came to hospital because of recurrent vomiting.Physical examinations showed coarse facial features,vision problems,serious abdominal flatulence and anal stenosis.Bowel imaging revealed malrotation of the midgut;and the magnetic resonance imaging (MRI) showed tethered spinal cord and malformation of sacrococcygeal vertebra.A 7.89 Mb deletion in chromosome 7 q36.lq36.3 region including MNX1 gene and a 2.20 Mb duplication in 14q32.33 area was found by using CMA.Patient 2,a 1 year and 3 months girl,came to hospital with global development delay.Clinical examination showed facial dysmorphic,growth retardation,intellectural disability,ptosis in right eye and anal stenosis.This patient had developmental retardation in language and movement.MRI showed spina bifida occulta.And a 15.00 Mb deletion in chromosome 7 q35q36.3 region was found including MNX1 gene.Literature review revealed that deletions in MNX1 gene led to Currarino syndrome with coarse facial features,growth retardation and intellectural disability,and this type of Currarino syndrome had not been reported in China.Conclusions Two cases of Currarino syndrome caused by microdeletion in 7q36 are reported for the first time in China,and this study can help clinicians to have a better understanding of this disease.

OBJECTIVE: To analyze the clinical and genetic characteristics of an infant with craniosynostosis. METHODS: An infant who was admitted to Wuhan Children's Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in April 2021 due to widening of the lateral ventricles for over a month was selected as the study subject. Clinical data of the patient was collected. Peripheral blood samples were collected from the infant and her parents for chromosomal karyotyping and whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was retrieved from the PubMed, Wanfang and CNKI databases (up to December 2021) by using key words including ERF gene, craniosynostosis, ERF mutation, craniosynostosis and ERF-related craniosynostosis. RESULTS: The infant, a 1-month-and-16-day-old female, was found to have sagittal synostosis by cranial X-ray radiography. Genetic testing revealed that she has harbored a heterozygous c.787C>T (p.Q263*) variant of the ERF gene, which was not found in either parent. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+PS2+PM2_Supporting). In total 63 relevant cases were retrieved from the database, and a total of 64 individuals were analyzed by genetic testing. Most of the cases were sporadic and males. Multiple cranial sutures (including at least two of the sagittal suture, coronal suture, lambdoid suture, and frontal suture) were involved in 45.45% of the cases, and those with sagittal suture closure only have accounted for 20.00%. The main clinical manifestations have included hypertelorism, exophthalmos, development delay, malar dysplasia, etc. Chiari type 1 malformation may present in some patients. Variants of the ERF gene have mainly included splicing and deletional variants, and there was a strong genetic heterogeneity among the infants and their pedigrees. CONCLUSION The c.787C>T (p.Q263*) variant of the ERF gene probably underlay the craniosynostosis of this infant. Above finding has enriched the phenotype ~ genotype spectrum of the ERF gene.
Female ; Humans ; Cranial Sutures/surgery* ; Craniosynostoses/genetics* ; Genetic Testing ; Mutation ; Repressor Proteins/genetics* ; Infant

Objective To study the predictive value of hemodynamic monitoring in the responsiveness of fluid therapy in neonatal septic shock.Method The 96 neonates with septic shock admitted to the NICU from Wuhan Children's Hospital and Tongji Hospital between March 2014 to May 2017 were enrolled.Hemodynamics parameters of neonates pre-,1 hour and 6 hour post-fluid therapy were supervised by ultrasonic cardiac output monitor.The hemodynamics parameters included cardiac index (CI),systemic vascular resistance (SVR),stroke volume (SV),stroke volume variation (SVV),stroke volume index (SVI) and corrected flow time (FTc).The SVI variation (△ SVI) were calculated based on the SVI among pre-and post-fluid therapy.According to the △ SVI,these samples were assigned into two groups,responsive group with a △ SVI ≥10％,and the other was nonresponsive group respectively.T-test was applied to analyze the differences of hemodynamic parameters between two groups.The associations between SVV、FTc and △ SVI were evaluated by bivariate correlation.Receiver operating characteristic curve (ROC) was used to evaluate the predictive value of SVV and FTc in fluid responsiveness.All statistical analyses were performed by SPSS 19.0,P＜0.05 was considered as statistically significant.Result A total of 96 cases were enrolled,of which 54 were fluid responsive group,while 42 were nonresponsive group.(1) Before fluid resuscitation,the FTc in responsive and nonresponsive groups were (317.1±22.2) ms and (326.8± 21.2) ms (P＜0.05) respectively,SVV were(18.3±2.0)％ and (15.0±2.6)％ (P＜0.05).SVV was significantly associated with △ SVI (r=0.542,P＜0.05).(2) There were statistically significant differences in heart rate,mean arterial pressure,cardiac output,cardiac index,stroke volume and systemic vascular resistance index before treatment,1 h and 6 h after treatment (P＜0.05).(3) The area under the ROC of SVV (AUC) was 0.838 (95％CI 0.749～0.906).A sensitivity of 98.2％,and specificity 73.8％ when SVV defined as 15.5％,with a significant difference when compared with FTc (AUC=0.642,95％CI 0.538～0.737) (P＜0.01).Conclusion SVV could be a reliable predictive index in estimating fluid responsiveness of neonatal septic shock and could be helpful parameter in clinic diagnosis.

Objective:To study the effects of active inter-hospital transfer on the clinical outcomes of neonatal acute respiratory distress syndrome (nARDS).Methods:From September 2018 to December 2020, neonates with nARDS transferred by ground ambulance to NICU of our hospital were retrospectively analyzed. The neonates were assigned into active transfer group and passive transfer group. Their general status, severity of nARDS, incidences of complications, duration of oxygen therapy, mechanical ventilation and hospital stay were analyzed.Results:A total of 78 neonates were enrolled in the study, including 45 cases in active transfer group and 33 cases in passive transfer group. No significant differences existed in gestational age, body weight, severity of nARDS, transfer distance and transfer duration between the two groups ( P>0.05). Active transfer group had significantly lower incidence of pneumothorax (3/45, 6.7%) than passive transfer group (6/33, 18.2%) ( P<0.05). No significant differences existed in the incidences of pulmonary hemorrhage, persistent pulmonary hypertension of newborn, intraventricular hemorrhage, hypoxic ischemic encephalopathy and length of hospital stay between the two groups ( P>0.05). Active transfer group had significantly shorter duration of oxygen therapy [(9.7±2.9) d vs. (11.3±4.0) d], non-invasive[(2.7±1.0) d vs. (3.7±1.4) d] and invasive ventilation [(5.0±1.9) d vs. (6.2±2.3) d] than passive transfer group ( P<0.05). Conclusions:Active inter-hospital transfer may reduce the incidence of pneumothorax in neonates with nARDS, shorten the duration of oxygen therapy, non-invasive and invasive ventilation during hospitalization without affecting the length of hospital stay.

Objective To investigate the application of pulmonary ultrasound in the diagnosis of neonatal novel coronavirus pneumonia (COVID-19). Methods In this retrospective study, the clinical data of 5 infants, who were admitted to the Department of Neonatology in Wuhan Children's hospital from 31 th January to 25 th February 2020, were collected. Bedside pulmondary ultrasound was conducted on admission, during the hospitalization, and before discharge, and the result were compared with the chest X-ray or CT done at the same time. Results Among the 5 cases who aged 1-18 days, 3 were male. The main clinical manifestations were respiratory and gastrointestinal symptoms. The pulmonary ultrasonography on admission showed abnormal pleural line and pulmonary edema of different severity in all 5 cases, presented as increase and fusion of B-line, and pulmonary interstitial syndrome; among them, one case also had a small-range consolidation. The chest CT on admission showed no obvious parenchymal infiltration in 2 cases, small strip or patchy high-density shadow in 2 cases, and ground glass change in one case. The re-examination of ultrosound during the hospitalization and at discharge showed improvement in all cases and were consistent with the chest X-ray taken at the sametime. Conclusions The main changes on the pulmonary ultrasonography in neonates with COVID-19 pneumonia are increase and fusion of B-line, abnormal pleural line, and nalveolar interstitial syndrome, and may combined with small range of pulmonary consolidation. The sensitivity of pulmonary ultrasound is higher than chest X-ray and CT in the diagnosis of pulmonary edema, and could be used in monitoring and evaluation of the disease.