[Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus].

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.

REPORT-Mild encephalitis/encephalopathy with a reversible splenial lesion associated with mumps infection: A case report.

We describe for the first time an child who demonstrated Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) after mumps infection in China. In this report, a 12-year-old boy came to Children's Hospital Affiliated to Zhengzhou University due to fever, swelling and pain under the earlobe for 4 days, and headache and vomiting for half of a day. Laboratory examinations showed a blood sodium level of 125mmol/L, both the Immunoglobulin M and Polymerase Chain Reaction results for the serum mumps virus were positive. Brain Magnetic Resonance Imaging (MRI) showed slight hypointense on T1 weighted images, hyperintense on T2-weighted images, fluid attenuated inversion recovery, diffusion-weighted images in the splenium of the corpus callosum indicative of MERS. On the 8th day, the patient no longer had swelling and pain around the parotid salivary glands, the sodium levels returned to normal. Onset of 14th d, follow-up brain MRI did not reveal any abnormalities. The case given to us indicates that MERS should be considered when patients after mumps infection presents with neurological symptoms and MRI should be performed to evaluate the splenium of the corpus callosum.

Association of Neutrophil-Lymphocyte Ratio and the Presence of Neonatal Sepsis.

The neutrophil-lymphocyte ratio (NLR) is an emerging risk factor of sepsis that is receiving increasing attention. However, the relationship between NLR and the presence of sepsis in neonates is poorly studied. Here, we retrospectively recruited 1480 neonates and collected and analyzed relevant clinical and laboratory data. According to the International Pediatric Sepsis Consensus, 737 neonates were diagnosed with sepsis, and 555 neonates were suspected for having infection. Neonates with hyperbilirubinemia (n = 188) served as controls. Neonates with sepsis had significantly elevated neutrophil counts and NLR (P < 0.001). The proportion of neonates with sepsis increased significantly from 41.6% when NLR < 0.91 to 66.2% when NLR > 1.88 group (P < 0.001). Multiple logistic regression analysis showed that NLR was an independent risk factor for the presence of neonatal sepsis. Receiver operating characteristic (ROC) curve analysis showed that the optimal cut-off value NLR for predicting the presence of neonatal sepsis was 1.62 (area under curve (AUC) = 0.63, 95% CI 0.60-0.66, P < 0.001). In conclusion, our data suggest that elevated NLR levels are associated with a higher neonatal sepsis risk.

Early prediction of adverse outcomes in infants with acute bilirubin encephalopathy.

OBJECTIVE: Acute bilirubin encephalopathy (ABE) remains one of the important causes of neonatal mortality and child disability, early identification, and intervention which could improve outcomes. The purpose of this study was to evaluate early predictors of adverse outcomes in infants with ABE. METHODS: Newborns of gestational age ≥ 35 weeks and diagnosed with ABE were included in the study. Bilirubin-induced neurological dysfunction (BIND) score, total serum bilirubin (TSB) peak value, and serum albumin levels were determined. Adverse outcomes were defined as death or survival with auditory dysfunction and/or cerebral palsy. RESULTS: Eighty-two infants were eligible for recruitment in the study. The outcome data from 76 ABE infants (92%) were used for analysis, of which 25 infants got adverse outcomes and 51 live a normal life. Univariate analysis for BIND score, TSB peak value, bilirubin-albumin ratio (B/A), albumin level, abnormal AABR, and neonatal sepsis was performed to elucidate the association with adverse outcomes. Bivariate logistic regression analysis showed B/A (OR 10.48, 95%CI: 1.55-70.81, P = 0.02) and BIND score (OR 3.68, 95%CI: 1.39-9.72, P = 0.01) were correlated with adverse outcomes. ROC curve analysis showed that B/A (≥8.9 mg/g), BIND score (≥6) could predict adverse outcomes of ABE separately; B/A in conjunction with BIND score could increase prediction sensitivity to 100%. INTERPRETATION: Both B/A and BIND score can be used to predict adverse outcomes of ABE, and the combination of the two parameters can increase prediction sensitivity significantly.

Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2 (c.541C>T) in a neonate: A case report.

BACKGROUND: Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renal disorder that is caused by mutations in AVPR2 or aquaporin 2 (AQP2). Up to now, there are few reports about CNDI in neonates. Early clinical manifestations of CNDI in neonates are atypical. A lack of understanding of the disease by clinicians causes frequent misdiagnoses or missed diagnoses, which may result in failure to administer treatments in time and ultimately leads to severe complications. In this study, clinical data of a case of AVPR2 gene mutation-induced CNDI, which was confirmed by genetic testing, were retrospectively analyzed to improve our understanding of this disease. CASE SUMMARY: On February 1, 2020, a male neonate was hospitalized 17 d after birth due to a 7 d period of pyrexia. The patient's symptoms included recurrent pyrexia, hypernatremia and hyperchloremia, which were difficult to treat. The patient was fed on demand, and water was additionally provided between milk intakes. A combination treatment of hydrochlorothiazide and amiloride was administered. After the treatment, body temperature and electrolyte levels returned to normal, the volume of urine was significantly reduced and the patient was subsequently discharged. Genetic tests confirmed that the patient carried the AVPR2 gene missense mutation c.541C>T (P.R181C), and the patient's mother carried a heterozygous mutation at the same locus. After clinical treatment with a combination of hydrochlorothiazide and amiloride, the body temperature and electrolyte levels returned to normal. Up until the most recent follow-up examination, normal body temperature, electrolyte levels and growth and development were observed. CONCLUSION: CNDI in the neonatal period is rare, and its clinical manifestations are unspecific with some patients merely showing recurrent fever and electrolyte disturbance. Genetic testing of AVPR2 and AQP2 can be used for screening and genetic diagnosis of CNDI.

[Efficacy of heated humidified high-flow nasal cannula in preterm infants aged less than 32 weeks after ventilator weaning].

OBJECTIVE: To investigate the efficacy of heated humidified high-flow nasal cannula (HHHFNC) and nasal continuous positive airway pressure (nCPAP) in preterm infants aged 26-31(+6) weeks with respiratory distress syndrome after ventilator weaning. METHODS: A total of 161 preterm infants were randomly divided into two groups after ventilator weaning: HHHFNC treatment (n=79) and nCPAP treatment (n=82). The two groups were subdivided into 26-28(+6) weeks and 29-31+6 weeks groups according to the gestational age. The treatment failure rate, reintubation rate within 7 days after extubation, incidence of complications, and mortality during hospitalization were compared between the two groups. RESULTS: The treatment failure rate and reintubation rate showed no significant differences between the HHHFNC and nCPAP groups. The preterm infants aged 26-28(+6) weeks in the HHHFNC group had a significantly higher treatment failure rate than those in the nCPAP group (P<0.05), while the reintubation rate showed no significant difference. As for the preterm infants aged 29-31(+6) weeks, the treatment failure rate and reintubation rate showed no significant differences between the two groups. The incidence of complications and mortality showed no significant differences between the HHHFNC and nCPAP groups. CONCLUSIONS: In preterm infants aged 29-31(+6) weeks, HHHFNC has a similar efficacy as nCPAP after ventilator weaning, while in those aged less than 29 weeks, HHHFNC should be used with great caution if selected as the first-line noninvasive respiratory support.

Prognosis of very preterm infants with severe respiratory distress syndrome receiving mechanical ventilation.

OBJECTIVE: To evaluate the prognosis of very preterm infants with severe respiratory distress syndrome (RDS) receiving mechanical ventilation. METHODS: A total of 288 preterm infants mechanically ventilated for severe RDS and completed follow-up till 18 months of corrected age comprised these study subjects. The associations of prenatal and postnatal factors, mode and duration of conventional mechanical ventilation (CMV), medication and treatment, and complications with cerebral palsy or mental developmental index (MDI) < 70 at 18 months of age were analyzed. RESULTS: The incidences of CP among study subjects were 17, 5, and 2% in infants less than 28, 28-30, and 30-32 weeks, respectively. The incidences of MDI < 70 were 49, 24, and 13% in infants less than 28 weeks, 28-30 weeks, and 30-32 weeks, respectively. Antenatal corticosteroids, preeclampsia, fetal distress, early and late bacteremia, and decreased weight gain were associated with CP and an MDI < 70. In the CP and MDI < 70 groups, the number of infants on CMV was significantly higher than on high-frequency oscillatory ventilation (HFOV). Longer duration of mechanical ventilation and blood transfusions were associated with an increased risk of having an MDI < 70 or CP. The complications in study subjects associated with an MDI < 70 or CP were BPD, NEC, and IVH grade III-IV. CONCLUSION: The prognosis of very preterm infants with severe RDS may be influenced by several prenatal and postnatal factors. HFOV although decreased the duration of mechanical ventilation, whether it will decrease the incidence of neurodevelopmental disability, needs to be explored further.