A study on the clinical application of different diagnostic criteria for bronchopulmonary dysplasia / 中国新生儿科杂志

Objective:To compare the results of clinical diagnosis and severity grading in preterm infants with bronchopulmonary dysplasia (BPD) using three different diagnostic criteria and the consistency of two new diagnostic criteria.Methods:From January to December, 2020, infants with gestational age <32 w admitted to neonatal intensive care unit of our hospital were retrospectively enrolled in this cohort study. The patients were diagnosed and graded according to the 2001, 2018 and 2019 criteria of BPD. Chi-square test was used to compare the differences of BPD diagnostic rate and mortality rate using three criteria and Kappa coefficient test was used to compare the consistency between the two new criteria of 2018 NICHD and 2019 NRN.Results:A total of 231 preterm infants were enrolled, including 130 males (56.3%) and 101 females. 9 patients were dead. According to 2018 NICHD criteria, 97 cases (42.0%) were diagnosed with BPD, including 16 gradeⅠ, 44 grade Ⅱ, 31 grade Ⅲ and 6 grade ⅢA. The remaining 134 cases were not BPD (58.0%). No significant differences existed ( P>0.05) among the diagnostic rates of 2001 criteria (112/231, 48.5%), 2018 criteria (97/231, 42.0%) and 2019 criteria (91/231, 39.4%). For grade Ⅲ BPD, the diagnostic rate of 2001 criteria was significantly higher than the 2018 criteria (including grade Ⅲ and grade ⅢA, 16.0%) and 2019 criteria (6.5%) and the diagnostic rate of 2018 criteria was also significantly higher than 2019 criteria ( P<0.05). No significant differences existed in the overall mortality rate of BPD among three criteria ( P>0.05), however, the case mortality rate of grade Ⅲ BPD of 2001 criteria (3.9%) was significantly lower than 2018 criteria (24.3%) and 2019 criteria (20.0%) ( P<0.05). The 2018 and 2019 criteria were highly consistent in the overall diagnostic rate of BPD (Kappa value = 0.946), the positive consistency rate was 93.8% (95% CI 85.5%~97.5%) and the negative consistency rate was 100.0% (95% CI 96.5%~100.0%). But the consistency of severity grading for BPD was weak (Kappa value = 0.597) between the two criteria. Conclusions:The 2001 NICHD BPD criteria is no longer valid because it tends to overdiagnose severe BPD, thus underestimate the case mortality. The 2018 NICHD criteria is comprehensive and detailed and the 2019 NRN criteria is simple and practical. The two new criteria are highly consistent in the overall diagnosis of BPD, but the consistency of severity grading is weak.

Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI).@*METHODS@#Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results.@*RESULTS@#The patients were all males, with the age of onset being 10 to 21 days. All patients were admitted to the hospital for intermittent fever as the first symptom during the neonatal period. Additional symptoms had included polydipsia and polyuria. After the treatment, 5 patients had recovered, the remainders still had NDI symptoms and developmental retardation. Five children were found to harbor pathogenic variants of the AVPR2/AQP2 gene, which included one in-frame mutation of c.645_646insGCACCTACCCTGGGTATCGCC, two missense mutations of c.541C>T and c.419C>A, and two hemizygous deletions of the AVPR2/AQP2 gene. Among these, two were unreported previously. Cases 6 and 7 were a pair of twins. Both had carried homozygous missense variants of c.538G>A of the AVPR2/AQP2 gene, which was known to be pathogenic.@*CONCLUSION@#AVPR2/AQP2 is the main pathogenic gene for congenital NDI, for which two novel pathogenic variants have been discovered in this study. Above results have provided a basis for clinical diagnosis and genetic counseling for the affected pedigrees.

Clinical characteristics of neonatal severe purulent meningitis / 中国小儿急救医学

Objective:To investigate the clinical characteristics of severe purulent meningitis in neonates.Methods:A retrospective study was conducted.One hundred and sixty-nine newborns with purulent meningitis diagnosed at the neonatal center of our hospital from January 2014 to December 2017 were selected.According to the severity of the disease, the cases were divided into severe group and mild group.The clinical data of all children were collected and analyzed, and the characteristics of severe purulent meningitis were summarized.Results:Among 169 cases of neonatal purulent meningitis, 43 cases(25.4%)were in severe group, and 126 cases(74.6%)were in mild group.Twenty-one cases were cured in severe group, 10 cases had complications, 9 cases abandoned and 3 cases died.Ninty-eight cases were cured in the mild group, 17 cases had complications and 11 cases were discharged automatically and 2 cases died.There were significant differences in respiratory failure requiring mechanical ventilation, convulsion, consciousness disorder, blood C-reactive protein, positive cerebrospinal fluid culture, severe abnormality of amplitude integrated electroencephalogram, cerebrospinal fluid/serum glucose ratio, the incidence rate of complications and mortality between two groups( P<0.05). Conclusion:Severe purulent meningitis not only has the manifestation of mild meningitis, but also often has the clinical characteristics of brain parenchymal damage and/or brain failure with more complications and higher mortality.

Clinical analysis of 27 cases with infantile diabetes / 中华内分泌外科杂志

Objective To investigate the clinical features,diagnosis and treatment of infantile diabetes.Methods The clinical data of 27 infants with type 1 diabetes (T1DM) admitted to our hospital from Apr.2014 to Jun.2016 were retrospectively analyzed.SPSS16.0 statistical software was used to carry out t test and chisquare test on relevant data.Results The onset age of diabetes in infants and young children was 1 year to 3 years and 7 months.There were 15 males and 12 females.The onset season was mainly in winter and spring.The fasting blood glucose in cesarean section was significantly higher than that in natural production group (P＜0.05).12 cases(44.44％) were complicated with respiratory infections before the onset of the disease,including 6 cases of pathogenic detection of viruses,mainly Coxsackie virus.Among them,14 cases were admitted to hospital with polydipsia and polyuria,6 cases had fever,cough and mental retardation,7 cases had elevated blood glucose,16 cases (62.50％) and 6 cases of women with diabetic ketoacidosis (37.50％).The incidence of diabetic ketoacidosis in male diabetic patients was higher than that in females (62.50％ vs 37.50％,x2=6.49,P＜0.05).With abnormal liver function and dyslipidemia in 2 cases;myocardial enzyme abnormality in 7 cases;abnormal thyroid function in 10 cases;26 cases of electrolyte abnormality,mainly hyponatremia;2 cases of positive anti-insulin antibody and 5 cases of positive glutamic acid decarboxylase antibody.Before admission,13 (35.14％) cases were misdiagnosed,6 cases were misdiagnosed as bronchopneumonia,3 cases were misdiagnosed as central nervous system infection,3 cases were sepsis and 1 case was myocarditis.All patients were treated with insulin.After 7 to 10 days of treatment,the patient's condition improved and continued to be treated at home.Conclusions The clinical manifestations of infantile T1DM onset are not typical,and it is easy to be associated with ketoacidosis.Infection may be one of the important causes of diabetic ketoacidosis.When the child has an infection and the blood sugar level is high,attention should be paid to the occurrence of diabetic ketoacidosis,to avoid misdiagnosis.

Neonatal Langerhans cell histiocytosis: a case report / 中华围产医学杂志

We reported a case of neonatal Langerhans cell histiocytosis (LCH) with his clinical manifestations, examinations, diagnosis and treatment. This infant was hospitalized due to the rash and poor response. He was diagnosed as LCH after admission by imaging, skin biopsy and immunohistochemistry. The infant died because his parents refused all possible treatments. At the moment, no effective treatment is available for LCH patients, while the main managements are infection control and necessary supportive care. Pulmonary infections often contribute to the death of LCH patient and can aggravate the situation by stimulating histiocytic hyperplasia.

Neonatal inflammatory bowel disease: a report of 2 cases with literature review / 临床儿科杂志

Objective To investigate the clinical characteristics of neonatal inflammatory bowel disease (IBD). Methods The clinical data of two neonates diagnosed with IBD. Clinical manifestation, laboratory examination, imaging, endoscopy and histopathological findings, treatment plan and prognosis were included. Results The clinical manifestations were fever, diarrhea, oral ulcer in two cases of neonatal IBD in this study. Laboratory findings showed inflammatory indicators (such as white blood cells, C-reactive protein) increased mainly accompanied by decreased hemoglobin, platelet, plasma albumin and other indicators. Endoscopic and pathological manifestations were significantly different in ulcerative colitis (UC) and Crohn disease (CD) children. The lesions range of UC patients were mainly sigmoid colon, and CD patients ileocecal. Conclusions For neonates with highly suspected IBD, positive endoscopy and gene detection are recommended. Early diagnosis and standard treatment are important. For children with refractory IBD with IL-10 and IL-10 receptor gene mutations, hematopoietic stem cell transplantation is feasible and could improve its prognosis.

A study on the relationship between the Wnt receptor signaling pathway and severe retinopathy of prematurity / 中国新生儿科杂志

Objective To study the relationship of Wnt receptor signaling pathway and severe retinopathy of prematurity (ROP).Method From January 2011 to June 2015,preterm infants with severe ROP admitted to the NICU of our hospital were enrolled prospectively.Preterm infants with similar gestational age,gender,and age (in days) admitted to our hospital during the same period were selected as the control group.FZD4,LRP5,and ND gene mutations in Wnt receptor signaling pathway were examined.Result A total of 61 Chinese preterm infants were screened for these three candidate genes of Wnt receptor signaling pathway,32 in ROP group and 29 in control group.ND and FZD4 gene mutations were not found among all cases.Eight types of LRP5 mutations were found in 26 cases of ROP group,including 7 cases of Exon18 missense mutation [c.3989C ＞ T;p.Ala1330Val (rs3736228)],5 cases of Exon8 synonymous mutation (c.1647T ＞ C;p.Phe549Phe),5 cases of Exon6 intronic mutation [c.1412 + 8G ＞ A (rs4988319)],3 cases of Exon2 missense mutation [c.266A ＞ G;p.Gln89Arg (rs41494349)],2 cases of Exon21 intronic mutation [c.4349-17C ＞ T (rs372086596)],2 cases of Exon19 synonymous mutation (c.4089C ＞ T;p.Asp 1363 Asp),one case of Exon9 synonymous mutation (c.1 932G ＞ A;p.Glu644Glu),and one case of Exon16 missense mutation (c.3580C ＞T;p.Arg1194Cys).Three types of LRP5 mutations were found in 6 cases of the control group,including 4 cases of Exon8 synonymous mutation,one case of Exon19 synonymous mutation,and one case of Exon9 synonymous mutation.The positive rates of Exonl8 missense mutation and Exon6 intronic mutation in severe ROP group were significantly higher than the control group (P ＜ 0.05).Conclusion LRP5 gene mutations in Wnt receptor signaling pathway may be associated with the occurrence of severe ROP.

Application of amplitude-integrated electroencephalography in term neonates with brain injury / 中国小儿急救医学

Objective To explore the value of amplitude-integrated electroencephalography(aEEG) in diagnosis and prognosis in term newborns with brain injury.Methods One hundred and thirty consecutive patients with brain injury admitted in NICU were prospectively enrolled in the study from Nov 2013to Apr 2015.The monitoring of aEEG was done at 1d,4d,7d,respectively.Clinical data were collected and com-pared with the result of aEEG.Results All the cases of newborns with abnormal aEEG background:discon-tinuous voltage(109cases),continuous low voltage(12cases),flat(4cases).The epileptic activity were re-corded in 33cases,and 15cases showed burst-suppression;sleep wake cycle:mature(32cases),immature (54cases),no sleep wake cycle(39cases).The judgment of abnormal level:70cases had mildly abnormal aEEG,severe abnormalities 60cases,and no significant difference in different types of diseases(x2=6.176, P=0.19).Recent prognosis:the death of mild and severe abnormalities were 1case,12cases,respectively, there were significant differences(x2=12.76,P﹤0.001).Developmental quotient(DQ)of these newborns were followed up for more than 6months,and there were significant differences in mild,severe abnormal aEEG in them with DQ≥85and DQ﹤85(x2=33.195,P﹤0.001).The sensitivity of aEEG in severe abnor-mal aEEG was 68.75%,the specificity was 78.68%,and the positive and negative predictive values of aEEG were 77.19%and 70.58%,respectively.The results of aEEG classification and sleep wake cycle were corre-lated with the prognosis of the patients(r=0.505,0.507,respectively,P﹤0.001).Conclusion aEEG can be used to monitor brain function,and it is helpful to evaluation of early diagnosis and prognosis.