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Objective To study the clinical and genetic characteristics of congenital hyperinsulinism (CHI).Method From November 2016 to November 2018,a cohort of 21 patients with CHI were retrospectively reviewed in our hospital.The second generation sequencing was performed on Ion torrent platform to identify the genetic etiology of this disease.Result The average birth weight was 3 748 g.Overall,11 of the 21 patients (52.4％) were large for gestational age (＞ Pg0),and 90.5％ (19/21) onset within 3 days after birth.Seizures occurred in 7 cases (33.3％).Diazine was effective in alleviation in 6 patients,octreotide was effective in 8 patients,and diazine and octreotide were ineffective in 7 patients.11 patients underwent 18-fluoro-l-dopa PET-CT scan,indicating focal islet cell proliferation in 8 patients and diffuse islet cell proliferation in 3 patients.8 focal cases accepted the partial pancreatectomy (7 cases who failed to respond to drug therapy,1 case who received octreotide had significant liver damage),and all of these 8 cases were confirmed with focal islet cell proliferation by postoperative pathology.7 cases had normal glucose level after surgery,while 1 case developed insulin-dependent diabetes.Patients of 3 cases with diffuse islet cell proliferation had no consent for surgery.Gene mutations were identified in 61.9％ (13/21) of patients (12 cases of ABCC8 gene and 1 case of KCNJ11 gene).15 sequence changes were identified (14 in ABCC8 and 1 in KCNJ11).3 new ABCC8 gene mutations (exon13:c.1822C ＞ T,p.Q608X;exon22:c.2691delC,p.W898Gfs*5;exon33:c.4039C ＞T,p.Q1347X),and 1 new KCNJJ11 gene mutation (exon1:c.629T ＞ A,p.H315Y) were firstly reported.Conclusion Partial pancreatectomy is an effective treatment for those CHI not responsive to drug,however,with an attendant risk of developing diabetes.Mutations of ABCC8 gene and KCNJJ11 gene are the main pathogenic genes of CHI.Patients with different gene mutations may have different responses to drug treatment.Therefore,it is necessary to improve gene testing in clinical practice to guide treatment and prognosis.3 new ABCC8 gene mutations and 1 new KCNJJ11 gene mutation were first reported,which expand the spectra of gene mutation.
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Objective To evaluate the levels of total serum bilirubin(TSB),amplitude integrated electroencephalogram(aEEG) monitoring and brainstem auditory evoked potential(BAEP) individually and in combination for the early diagnosis of neonatal acute bilirubin encephalopathy by receiver operating charac-teristic( ROC) curve. Methods Clinical data was retrospectively analyzed. A total of 152 infants were diag-nosed with hyperbilirubinemia,including 119 cases of non-bilirubin encephalopathy group and 33 cases of bil-irubin encephalopathy group. The detection results of peak serum bilirubin,aEEG,BAEP combined with the three methods were determined with ROC curve analysis. Results The areas under ROC curve of TSB lev-el,aEEG,BAEP and in combination were 0. 900,0. 738,0. 767,0. 925,respectively,the corresponding sensi-tivity(specificity) in the cut-off point were 90. 91%(78. 15%),87. 88%(59. 66%),65. 52%(87. 91%), 93. 10%(82. 42%),respectively. It showed that the area under ROC curve of the maximum,the comprehen-sive assessment in diagnostic sensitivity and specificity of the combination of three methods were better than any single detection method by ROC curve. Conclusion The methods of TSB level,aEEG and BAEP play an important role in the diagnosis of neonatal bilirubin encephalopathy,and combination with the three meth-ods can improve the accuracy of diagnosis.
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Objective To evaluate the levels of total serum bilirubin(TSB),amplitude integrated electroencephalogram(aEEG) monitoring and brainstem auditory evoked potential(BAEP) individually and in combination for the early diagnosis of neonatal acute bilirubin encephalopathy by receiver operating charac-teristic( ROC) curve. Methods Clinical data was retrospectively analyzed. A total of 152 infants were diag-nosed with hyperbilirubinemia,including 119 cases of non-bilirubin encephalopathy group and 33 cases of bil-irubin encephalopathy group. The detection results of peak serum bilirubin,aEEG,BAEP combined with the three methods were determined with ROC curve analysis. Results The areas under ROC curve of TSB lev-el,aEEG,BAEP and in combination were 0. 900,0. 738,0. 767,0. 925,respectively,the corresponding sensi-tivity(specificity) in the cut-off point were 90. 91%(78. 15%),87. 88%(59. 66%),65. 52%(87. 91%), 93. 10%(82. 42%),respectively. It showed that the area under ROC curve of the maximum,the comprehen-sive assessment in diagnostic sensitivity and specificity of the combination of three methods were better than any single detection method by ROC curve. Conclusion The methods of TSB level,aEEG and BAEP play an important role in the diagnosis of neonatal bilirubin encephalopathy,and combination with the three meth-ods can improve the accuracy of diagnosis.
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Objective To investigate the diagnostic correlation and sensitivity of amplitude integrated electroencephalogram (aEEG),brainstem auditory evoked potential (BAEP) and cranial magnetic resonance imaging (MRI) for acute bilirubin encephalopathy (ABE) in the newborn.Method Term and near-term neonates (gestational age ≥ 35 weeks) with hyperbilirubinemia (the level of bilirubin over than 95th percentile) of high and intermediate risk group admitted in the neonatal ward of Guangxi Maternal and Child Health Care Hospital from Jan 2014 to Dec 2015 were recruited retrospectively.The infants were assigned to ABE group and non-ABE group according to the diagnostic criteria of ABE.The clinical data of the newborns were collected and the diagnostic correlation between clinical diagnosis and aEEG,BAEP and cranial MRI were analyzed.The receiver operating characteristic (ROC) curve was adopted to assess the diagnostic efficiency of the peak level of serum bilirubin,aEEG,BAEP and cranial MRI on the early diagnosis of ABE.Result A total of 152 newborns with hyperbilirubinemia were recruited,including 33 cases in the ABE group and 119 cases in non-ABE group.(1) The results of aEEG and MRI were marginally positively correlated with clinical diagnosis of ABE (aEEG:r =0.487,P ＜ 0.001;MRI:r =0.220,P=0.018),while the results of BAEP were closely related to the clinical diagnosis of ABE (r =0.593,P ＜ 0.001);(2) The results of BAEP and MRI on the diagnosis of ABE were positively correlated with those of aEEG (BAEP:r =0.424,P ＜ 0.001;MRI:r =0.307,P ＜ 0.001).(3) The area under the ROC curves for predicting the onset of ABE were 0.899 for the peak level of serum bilirubin,0.767 for BAEP,0.738 for aEEG and 0.590 for MRI.Conclusion There was the correlation on the diagnosis of ABE among the methods of aEEG,BAEP and MRI.The combined diagnosis of the three methods could play a complementary role.The aEEG contributed to the early diagnosis of ABE with high sensitivity.
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Objective To study the risk factors and prognosis of very/extremely low birth weight preterm (VLBW/ELBW) infants with bronchopulmonary dysplasia (BPD) during the first three years of life.Method From January 1st to December 31st,2012,a retrospective study was conducted on the VLBW/ELBW preterm infants with ＞ 28 days of hospitalization in the NICU of our hospital.The infants were assigned into BPD group (FiO2 ＞ 21％) and non-BPD group depending on the oxygen requirement on the 28th day after birth.The incidences of bronchitis,pneumonia,wheezing and re-hospitalization during the first three years of life were analyzed.The pulmonary function tests were performed at one-year-age.Independent-sapmles t test,Kruskal-wallis test and x2 test were used to compare the results between the two groups.Result A total of 72 patients were enrolled into this study.34 patients in the BPD group and 38 in the non-BPD group.The gestational age,birth weight and the use of INSURE technique of BPD group were significantly lower than non-BPD group,while the duration of hospital stays were longer than non-BPD group (P ＜0.05).The ratio of male,neonatal respiratory distress syndrome (RDS),patent ductus arteriosus (PDA),intrauterine infection,mechanical ventilation,nosocomial infection and the inhalation of high concentrations of oxygen were significantly higher in BPD group than non-BPD group (P ＜ 0.05).Incidences of bronchitis and wheezing during 0 ～ 1,1 ～ 2 and 2 ～ 3 years of age in the BPD were significantly higher than non-BPD group,separately.No significant differences existed in the incidences of pneumonia and re-hospitalization between the two groups.Pulmonary function test showed that the respiratory rate (RR) and peak tidal expiratory flow in the BPD group were significantly higher than non-BPD group,while the tidal volume,peak expiratory time and peak expiratory volume were significantly lower in BPD group than non-BPD group (P ＜ 0.05).Conclusion BPD often occurs in preterm infants with gestational age less than 32 weeks.It may cause impaired pulmonary function,characterized by obstruction in small airway,and increases the risk of bronchitis and wheezing during the first three year of life.
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Objective To establish biological reference intervals of neonatal T lymphocyte subsets and IgG, IgA,IgMlevels in 24 -hour newborns in Guangxi.Methods Maternal history and neonatal clinical data were evalua-ted and recorded.Venous blood samplings were collected within 24 hours of birth and were sent for testing in half an hour.The neonates were divided into the early -preterm,the late -preterm and the term neonates group,1 1 0 cases for each group.The parturients were divided into Dexamethasone treatment group and without Dexamethasone treatment group.Data in neonates and the parturients and the sex were analyzed by SPSS 1 7.0 software and the biological refe-rence values were calculated.Results The two -sided reference intervals of 95% in the early -preterm group,the late -preterm group and the term neonates group were as follows:CD3 +:52.07 -88.92 g/L,58.1 6 -90.42 g/L, 56.1 5 -95.67 g/L;CD4 +:25.20 -59.26 g/L,31 .27 -72.91 g/L,28.44 -82.66 g/L;CD8 +:7.30 -36.26 g/L, 9.1 3 -38.49 g/L,1 1 .09 -48.99 g/L;CD4 +/CD8 +:0.34 -4.58,0.34 -4.58,0.32 -3.80;CD1 9 +:3.95 -27.59 g/L,4.04 -30.94 g/L,4.08 -38.70 g/L;NK cell:1 .34 -6.64 g/L,2.88 -8.92 g/L,3.07 -9.35 g/L;IgA:0.000 4 -0.039 6 g/L,0.000 0 -0.069 0 g/L,0.000 0 -0.069 0 g/L;IgM:0.001 6 -0.1 58 4 g/L,0.020 0 -0.1 40 0 g/L,0.020 0 -0.420 0 g/L;IgG:3.22 -1 0.98 g/L,1 .1 0 -1 4.62 g/L,5.00 -1 3.66 g/L.Moreover the ca-ses with Dexamethasone treatment were as follows:the late -preterm infants CD8 + 1 0.35 -40.33 g/L,NK 3.1 0 -9.46 g/L,term NK 6.60 -9.50 g/L;those in without Dexamethasone treatment:the late -preterm infants CD8 +8.42 -34.96 g/L,NK 2.94 -7.80 g/L,term NK 2.98 -8.94 g/L;according to gender,the males in the late -pre-term infants CD8 + 8.26 -35.66 g/L,term CD3 + 51 .90 -92.94 g/L;females in the late -preterm infants CD8 +1 1 .08 -40.68 g/L,term CD3 + 61 .1 0 -96.1 4 g/L.Conclusions Testing values of neonatal T lymphocyte subsets and IgG,IgA,IgM levels in 24 -hour newborns in Guangxi disperse largely and show some differences among the early -preterm neonates,the late -preterm neonates and the term neonates,and maternal Dexamethasone treatment during pregnancy and gender play a role in neonatal immunity.