Kaufman Oculocerebrofacial syndrome in a newborn: a case report and literature review / 中国新生儿科杂志

Objective:To study the clinical features, treatment, and prognostic features of Kaufman Oculocerebrofacial syndrome.Methods:The clinical characteristics of a newborn with Kaufman Oculocerebrofacial syndrome admitted to the neonatal unit of Guiyang Maternal and Child Health Care Hospital was reported. Using "Kaufman Oculocerebrofacial syndrome", "Blepharophimosis-ptosis-intellectual disability syndrome" and "UBE3B gene" as keywords, databases including CNKI, VIP database, Wanfang database, Chinese medical journals full-text database, PubMed, Web of Science database and Embase database were searched from the date of establishment to June 2022. The clinical characteristics, treatment and prognosis of Kaufman Oculocerebrofacial syndrome from published literature were summarized.Results:The proband was a boy presenting with small lid fissure, wide eye spacing and feeding difficulties. Whole exome sequencing revealed compound heterozygous mutation in the UBE3B gene, c.1445_1448dupTCAC inherited from his father and c.1703dupA inherited from his mother, both variants had not been reported in the domestic and foreign literature thus far. A total of 34 newborn cases were summarized from 11 case reports, including this report. The main clinical manifestations were developmental delay (35/35), peculiar facial features (35/35), narrow eye slits (35/35), feeding difficulties (33/35), ear abnormalities (33/35), hypotonia (32/35), mouth abnormalities (31/35), breathing difficulties (26/35), small jaws (25/35) and low birth weight (16/35).There is no effective treatment available, and a total of 4 cases followed up to over 16 years old have been reported, all of which have severe mental retardation, language deficiency, along with other serious neurological diseases.Conclusions:when children exhibit symptoms such as narrow eye fissures, feeding difficulties, hypotonia, developmental delays, and peculiar facial features in the neonatal period, whole exome sequence can be used to aid diagnosis and evaluate for Kaufman Oculocerebrofacial syndrome. Families with children of Kaufman Oculocerebrofacial syndrome may undergo prenatal diagnosis based on genetic findings.

Risk factors of bronchopulmonary dysplasia in very preterm infants: a national multicenter study / 中国小儿急救医学

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

Prediction of neonatal hyperbilirubinemia by transcutaneous bilirubin nomograms / 中华围产医学杂志

Objective To predict the risk of neonatal hyperbilirubinemia by transcutaneous bilirubin (TcB) nomograms and clinical risk factors.Methods Healthy term and late-preterm newborns (≥ 35 gestational weeks,and birth weight ≥ 2 000 g) born in Guizhou Maternal and Child Care Hospital between January 1,2013 and December 31,2013,were included.TcB levels were continuously recorded within 168 hours after birth.The value of hour-specific TcB nomogram combined with receiver operating characteristic (ROC)curves and Logistic regression model for predicting risk of hyperbilirubinemia was evaluated.Pearson's Chisquare test was also used for statistical analysis.Results A total of 5 250 cases were enrolled.TcB increased rapidly in the first 40 hours after birth,slowly increased between 40 to 96 hours,and reached a high level after 96 hours.Among them,the 95th percentile TcB stablized at 96 hours after birth.The 40th,75th and 95th percentile TcB peak levels were 173,217 and 248 μmol/L.Among the 5 250 neonates,there were 277 cases (5.3％) in the high-risk zone within 72 hours.The positive predictive value (PPV) was 22.02％;1 087 cases (20.7％) and 1 854 cases (35.3％) were in the medium-high risk and medium-low risk zones along with the PPV of 10.58％and 3.72％,respectively.There were 2 032 cases (38.7％) in the low-risk zone with the PPV of 1.38％.Multivariate analysis showed that the TcB high-risk zone after 72 hours was associated with gestational age,delivery mode,feeding mode and TcB level of risk zones within 72 hours.Compared to those born at ≥ 40 gestational weeks,those born at ≥ 37-＜40 gestational weeks were more likely in the TcB high-risk zone after 72 hours (OR=1.80,95％CI:1.29-2.51).The likelihood was reduced by 42％ among neonates born with cesarean section compared to those delivered vaginally in term of the TcB high-risk zone after 72 hours.Infants who received mixed feeding were less likely to be in the TcB high-risk zone after 72 hours when compared to breastfed infants (OR=0.51,95％CI:0.29-0.88).With the reduction of the high-risk zone level within 72 hours,the likelihood in the TcB high-risk zone after 72 hours was also decreased.ROC curve showed that the area under the curve (AUC) for predicting hyperbilirubinemia was 0.75 and its 95％CI was 0.72-0.78,with a sensitivity of 90.00％ and specificity of 40.00％.The AUC of a combination of predictive results obtained by the Logistic regression model with significant variables in univariate analysis and high-risk zone after 72 hours was 0.66,and its 95％CI was 0.62-0.69.AUC estimated by Logistic regression model according to the TcB levels of risk zones within 72 hours combining with clinical risk factors was 0.79,and its 95％CI was 0.76-0.82 (P＜0.01).Conclusions Hour-specific TcB nomograms of newborns in our hospital have been obtained,which facilitates the prediction and early intervention of neonatal hyperbilirubinemia.

Assessment and intervention of neonatal pain in neonatal intensive care unit / 中国新生儿科杂志

Objective To study the pain controlling effects of non-pharmaceutical interventions in neonatal intensive care unit (NICU) setting. Methods Infants who received radial artery puncture were assigned into control group, non-nutritive sucking (NNS) group and NNS plus glucose (NNS + GS) group according to their admission sequences. Each group contained 20 patients. Heart rate ( HR), respiratory rate (RR) and oxygen saturation (SpO2 ) before and after the procedure were monitored using Multi-Parameter Monitor ECG. Neonatal pain was evaluated using the preterm infant pain profile (PIPP). Results Among all three groups, after radial artery puncture, HR and RR were significantly increased, and SpO2 was significantly decreased (P < 0. 01). HR, RR and SpO2 variations in NNS group and NNS + GS group were less significant than the control group (P < 0. 05), and recovered to baseline more quickly. During the radial artery puncture, PIPP scores of infants in NNS and NNS + GS group were significantly lower than the control group (P < 0. 01), with NNS + GS group lower than NNS group (P <0. 05). Conclusions HR, RR and SpO2 can be used as physiological indicators of neonatal pain. PIPP score is simple and practical to be used in NICU setting. Both NNS and NNS + GS can partially relieve neonatal pain, and NNS + GS works better.